Characteristics of phase I participants and genetic variants. a, Geographic distribution and demographic statistics of the 4,053 participants involved in the BIGCS phase I genomic study, classified by place of birth. The numbers on the map indicate the number of participants in each region. b, Composition of samples within the study. c, Allele frequency distribution of known and novel variants, with display of SNPs and indels. d, Length distribution and proportion of indel variants in non-coding and coding regions. e, Venn diagram illustrating variants identified in BIGCS compared to other data resources. Each colored oval represents a specific resource, with its name, variant number, and sample size. f, Average imputation accuracy is shown for variants in each unreferenced allele frequency group. Each colored line corresponds to a reference panel. Credit: Nature (2024). DOI: 10.1038/s41586-023-06988-4
A team of medical researchers from Guangzhou Women’s and Children’s Medical Center, together with colleagues from several other institutions in China, conducted a large-scale genetic study. Publication in the journal Naturethe group analyzed genetic sequencing data from thousands of Chinese participants.
Nicholas John Timpson of the University of Bristol published a News & Views article in the same journal issue describing the ideas behind mapping genetic variation in given populations and an overview of the team’s work in China.
As the study of genetic sequencing and the use of genetic data continues to advance, medical researchers are looking for new ways to treat patients based on their unique genetic profiles. To achieve this goal, medical scientists conduct genetic studies that involve comparing the genetic data of large numbers of people to find variants.
In this new effort, the Chinese team analyzed genetic data obtained from participants over the past decade for a project called Born in Guangzhou Cohort Study. Genetic data was collected from people born in Guangzhou and their parents. To date, researchers have analyzed data from more than 4,000 people and an additional 58,000 newborns. In addition to genetic data, the researchers also collected epidemiological data, such as height and weight, and other information including medical history.
The research team discovered genetic variants that can impact a person’s health and well-being as they age. One variant was associated with weight gain during pregnancy. Another was associated with the development of cholestasis, the overproduction of bile, in pregnant women, leading to dry, itchy skin for the mother and jaundice or sometimes death of the baby. They note that the variant appears to be more prevalent among East Asian mothers. They also found variants that appear to explain abnormal cholesterol levels in the mother, the baby, or both.
The research team also discovered variants that appeared to play a role in physical characteristics: tall mothers with high blood sugar, for example, had heavier babies if they fasted during pregnancy, while mothers who developed high blood pressure tended to have smaller babies. babies.
More information:
Shujia Huang et al, Born in Guangzhou cohort study enables generational genetic discoveries, Nature (2024). DOI: 10.1038/s41586-023-06988-4
Nicholas John Timpson, A First Look at the Genetics of Birth Cohorts in China, Nature (2024). DOI: 10.1038/d41586-024-00079-8
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